Article

Enhancing Variant Calling in Whole Exome Sequencing (WES) Data Using Population-Matched Reference Genomes

2024-08-20

Abstract excerpt

Whole exon sequencing (WES) data are frequently used for cancer diagnosis and genome-wide association studies (GWAS), hinging upon high-coverage read mapping, informative variant calling, and high-quality reference genomes. The center position of the currently used genome assembly, GRCh38, is now challenged by two newly publicized telomere-to-telomere or T2T genomes, T2T-CHM13 and T2T-YAO, and it becomes urgent to...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 0d4a8e21-031b-55ce-9811-0ed3d10dbcfe
DOI: 10.1101/2024.08.19.608554

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Enhancing Variant Calling in Whole Exome Sequencing (WES) Data Using Population-Matched Reference GenomesDOI 10.1101/2024.08.19.608554Read

Enhancing Variant Calling in Whole-exome Sequencing Data Using Population-matched Reference Genomes.Semantic proximity Read

A Pangenome Reference of 36 Chinese populationsSemantic proximity Read

A pangenome reference of 36 Chinese populations.Semantic proximity Read

Next-generation sequencing analysis with a population-specific human reference genome.Semantic proximity Read

Next-generation sequencing analysis with a population-specific reference genomeSemantic proximity Read

A complete reference genome improves analysis of human genetic variation.Semantic proximity Read

A complete reference genome improves analysis of human genetic variationSemantic proximity Read

The 1000 Chinese Pangenome empowers medical and population genetics.Semantic proximity Read

NyuWa Genome resource: A deep whole-genome sequencing-based variation profile and reference panel for the Chinese population.Semantic proximity Read

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.Semantic proximity Read

Deep whole-genome sequencing of 90 Han Chinese genomes.Semantic proximity Read

Leveraging Human Pangenome for Improved Somatic Variant DetectionSemantic proximity Read